Eva Michael

COMPIS - Congenital MyoPati Interventions Study

Eva Michael

Populärvetenskaplig sammanfattning av projektet
Congenital myopathy is a clinically and genetically diverse muscle disorder with muscle hypotonus and a generalized, slowly progressing muscle weakness, affecting even the breathing muscles and heart. The diagnosis is established through muscle biopsy and genetic testing. The incidence and prevalence of this disorder is not well known and a portion of the patients still lack a verified genetic cause. There is still a lot to learn about the natural history of this diverse group and we believe that there are several new genes to be identified.
There is currently no cure for this disorder but some patients have tested oral salbutamol with a very good effect on muscle function and muscle strength. With this study we want to:
1) describe the incidence and prevalence of congenital myopathy in Sweden,
2) describe the symptoms of our Swedish patients and how these correlate to their genetic mutation and changes on muscle biopsy
3) investigate the current muscle function and muscle strength of these patients.
4) We will also select several patients that fulfill our inclusion criteria and perform a randomized-controlled study. In this randomized controlled study, we will test if daily oral salbutamol can improve muscle function and muscle strength in congenital myopathy patients and how these improvements affect the quality of life of our patients.

Alla stipendiater 2020

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